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Updated: Jun 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Published on: April 4, 2018

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解开GRIA1神经发育障碍:从p.(Ala636Thr) 变体中吸取的教训

Nicolai Kohring Tvergaard1, Tinatin Tkemaladze2,3, Tommy Stödberg4,5

  • 1Department of Clinical Genetics, Kennedy Center, Copenhagen University Hospital, Copenhagen, Denmark.

Clinical genetics
|June 19, 2024
PubMed
概括

罕见的GRIA1变异会导致神经发育障碍. 这项研究详细介绍了八名患有复发GRIA1 p.(Ala636Thr) 变异的患者的临床表型,揭示了对认知和行为的广泛影响.

关键词:
亚马帕尔 (AMPAR) 是一个亚马帕尔 (AMPAR).格里亚1 (GRIA1) 是一个自主性 自主性 自主性发展轨迹的发展轨迹是一种.自然历史,自然历史.结果结果结果结果.综合征综合征是指一个综合征.治疗治疗治疗治疗治疗治疗

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